R60K (p.Arg60Lys) variant of NR3C1 (Glucocorticoid receptor)
R60K (p.Arg60Lys) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R60K (p.Arg60Lys) variant details
- p.Arg60Lys
- TOPMed rs1329822283
- gnomAD rs1329822283
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.10
- CADD 18.70
- PolyPhen-2 0.10
- SIFT 0.99
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0359